Melanoma, and Osteosarcoma

Diseases related with Melanoma and Osteosarcoma

In the following list you will find some of the most common rare diseases related to Melanoma and Osteosarcoma that can help you solving undiagnosed cases.

Top matches:

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant MelanomaThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (OMIM ), caused by variation in the CDKN2A gene (OMIM ) on chromosome 9p21; CMM3 (OMIM ), caused by variation in the CDK4 gene (OMIM ) on chromosome 12q14; CMM4 (OMIM ), mapped to chromosome 1p22; CMM5 (OMIM ), caused by variation in the MC1R gene (OMIM ) on chromosome 16q24; CMM6 (OMIM ), caused by variation in the XRCC3 gene (OMIM ) on chromosome 14q32; CMM7 (OMIM ), mapped to chromosome 20q11; CMM8 (OMIM ), caused by variation in the MITF gene (OMIM ) on chromosome 3p13; CMM9 (OMIM ), caused by variation in the TERT gene (OMIM ) on chromosome 5p15; and CMM10 (OMIM ), caused by mutation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (OMIM ), STK11 (OMIM ), PTEN (OMIM ), TRRAP (OMIM ), DCC (OMIM ), GRIN2A (OMIM ), ZNF831, BAP1 (OMIM ), and RASA2 (OMIM ). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) (Davies et al., 2002; Pollock et al., 2003).

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 Is also known as familial atypical mole-malignant melanoma syndrome|b-k mole syndrome|melanoma, familial|dns|dysplastic nevus syndrome, hereditary|cmm|melanoma, cutaneous malignant|mlm|fammm|melanoma, malignant

Related symptoms:

  • Neoplasm
  • Abnormality of the eye
  • Retinopathy
  • Nevus
  • Neoplasm of the skin


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Other less relevant matches:

Medium match WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of cutaneous malignant melanoma, see {155600}.

Related symptoms:

  • Neoplasm
  • Melanoma


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6; CMM6

OSTEOGENIC SARCOMA Is also known as osteosarcoma|osrc

Related symptoms:

  • Short stature
  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Sarcoma
  • Osteosarcoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about OSTEOGENIC SARCOMA

Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). Genetic Heterogeneity of Paget Disease of BoneAlso see PDB2 (OMIM ), caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q21; PDB4 (OMIM ), mapped to chromosome 5q31; PDB5 (OMIM ), caused by mutation in the TNFRSF11B gene (OMIM ) on chromosome 8q24; and PDB6 (OMIM ), caused by mutation in the ZNF687 gene (OMIM ) on chromosome 1q21.Suggestive linkage of a form of PDB to chromosome 6p (PDB1) was reported by Fotino et al. (1977); however, further studies did not confirm linkage to this site (Moore and Hoffman, 1988; Nance et al., 2000; Good et al., 2001).

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Bone pain
  • Osteolysis


SOURCES: OMIM MENDELIAN

More info about PAGET DISEASE OF BONE 3; PDB3

Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Top 5 symptoms//phenotypes associated to Melanoma and Osteosarcoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Sarcoma Common - Between 50% and 80% cases
Leukemia Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Osteosarcoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain

Rare Symptoms - Less than 30% cases

Cataract Patchy osteosclerosis Soft tissue sarcoma Skeletal muscle atrophy Alopecia of scalp Squamous cell carcinoma Visual impairment Premature graying of hair Sparse scalp hair Abnormality of the dentition Alopecia Osteoporosis Hypogonadism Hyperkeratosis Osteopenia Neoplasm of the lung Fractures of the long bones Hypopigmentation of the skin Neoplasm of the skin Chondrosarcoma Cutaneous melanoma Colon cancer Retinopathy Breast carcinoma Abnormality of the cerebral vasculature Dermal atrophy Laryngomalacia Meningioma Pili torti Renal neoplasm Atherosclerosis Spontaneous abortion Macular degeneration Lipodystrophy Peripheral arterial stenosis Type I diabetes mellitus Lack of skin elasticity Chondrocalcinosis Progeroid facial appearance Polyuria High pitched voice Scleroderma Rocker bottom foot Polyphagia Decreased fertility Lipoatrophy Aplasia/Hypoplasia of the skin Abnormality of the thorax Abnormality of the testis Telangiectasia of the skin Polydipsia Abnormality of the voice Myelodysplasia Myeloid leukemia Secondary amenorrhea Ovarian neoplasm Prematurely aged appearance Subcapsular cataract Premature loss of teeth Pulmonary artery stenosis Posterior subcapsular cataract Chorioretinitis Slender build Pathologic fracture Myopathy Skeletal dysplasia Proximal muscle weakness Limb muscle weakness Bruising susceptibility Thin skin Bowing of the legs Osteomyelitis Soft skin Increased susceptibility to fractures Limb-girdle muscle weakness Limb-girdle muscle atrophy Fibrosarcoma Presenile cataracts Metaphyseal striations Histiocytoma Stenosis of the medullary cavity of the long bones Diaphyseal cortical sclerosis Muscle weakness Elevated alkaline phosphatase White forelock Neoplasm of the small intestine Thyroid carcinoma Enlarged joints Arteriosclerosis Narrow nasal ridge Hoarse voice Abnormal hair whorl Poliosis Subcutaneous calcification Gastrointestinal carcinoma Osteolysis Premature arteriosclerosis Neoplasm of the oral cavity Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Abnormality of metabolism/homeostasis Retinoblastoma Embryonal neoplasm Hearing impairment Bone pain Hypergonadotropic hypogonadism Nephropathy Increased bone mineral density Neoplasm of the colon Stomach cancer Adrenocortical carcinoma Lung adenocarcinoma Neoplasm of the nervous system Monoclonal immunoglobulin M proteinemia Plethora Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the adrenal cortex Prostate cancer Prostate neoplasm Intellectual disability Growth delay Feeding difficulties Frontal bossing Edema Vomiting Diarrhea Rhabdomyosarcoma Medulloblastoma Hyperhidrosis Atypical nevus Nevus Melanocytic nevus Freckling Blue irides Pancreatic adenocarcinoma Numerous nevi Uveal melanoma Oropharyngeal squamous cell carcinoma Atypical nevi in non-sun exposed areas Brain neoplasm Pancreatic squamous cell carcinoma Lymphoma Nephroblastoma Hodgkin lymphoma Acute lymphoblastic leukemia Progressive encephalopathy Neoplasm of the pancreas Acute leukemia Prominent forehead Postnatal growth retardation Narrow face Chest pain Diabetes mellitus Micropenis Proptosis Joint stiffness Retinal degeneration Abnormality of the eye Small hand Coma Convex nasal ridge Behavioral abnormality Decreased testicular size Type II diabetes mellitus Myocardial infarction Decreased body weight Abnormality of retinal pigmentation Insulin resistance Skin ulcer Abnormality of the hair Rod-cone dystrophy Congestive heart failure Erythema Erythroderma Sparse hair Skin rash Abnormality of skin pigmentation Abnormal blistering of the skin Overgrowth Eczema Cutaneous photosensitivity Telangiectasia Basal cell carcinoma Peripheral neuropathy Striae distensae Severe vision loss Poikiloderma Concave nasal ridge Acantholysis Lamellar cataract Acrokeratosis Hypertension Osteomyelitis leading to amputation due to slow healing fractures


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